Canonical Allele Identifier: CA375501173

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 662662
• ClinVar RCV Id: RCV000820357 ; RCV000988290
• dbSNP Id: rs1588344733
• MyVariant Identifiers: chr9:g.138657494C>T (hg19) ; chr9:g.135765648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765648C>T , CM000671.2:g.135765648C>T	GRCh38
NC_000009.11:g.138657494C>T , CM000671.1:g.138657494C>T	GRCh37
NC_000009.10:g.137797315C>T	NCBI36
NG_033070.1:g.68464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1225C>T MANE Select	ENSP00000360822.2:p.Pro409Ser
ENST00000674572.1:c.1066C>T	ENSP00000501742.1:p.Pro356Ser
ENST00000675090.1:c.973C>T	ENSP00000501833.1:p.Pro325Ser
ENST00000675399.1:c.973C>T	ENSP00000501932.1:p.Pro325Ser
ENST00000676421.1:c.982C>T	ENSP00000502322.1:p.Pro328Ser
ENST00000263604.5:c.1126C>T	ENSP00000263604.4:p.Pro376Ser
ENST00000371757.6:c.1225C>T	ENSP00000360822.2:p.Pro409Ser
ENST00000460750.5:c.*835C>T	ENSP00000418777.1:n.*835C>T
ENST00000486577.6:c.1108C>T	ENSP00000417578.3:p.Pro370Ser
ENST00000487664.5:c.1225C>T	ENSP00000417851.2:p.Pro409Ser
ENST00000488444.6:c.1168C>T	ENSP00000419007.3:p.Pro390Ser
ENST00000490355.6:c.1168C>T	ENSP00000418003.3:p.Pro390Ser
ENST00000490363.3:n.1044C>T
ENST00000491806.6:c.1168C>T	ENSP00000419086.3:p.Pro390Ser
ENST00000628528.2:c.1090C>T	ENSP00000486374.1:p.Pro364Ser
ENST00000630792.2:c.1066C>T	ENSP00000486486.1:p.Pro356Ser
ENST00000631073.2:c.1168C>T	ENSP00000486130.1:p.Pro390Ser
NM_001272003.1:c.1090C>T	NP_001258932.1:p.Pro364Ser
NM_020822.2:c.1225C>T	NP_065873.2:p.Pro409Ser
XM_011518877.1:c.1360C>T	XP_011517179.1:p.Pro454Ser
XM_011518878.1:c.1369C>T	XP_011517180.1:p.Pro457Ser
XM_011518879.1:c.1360C>T	XP_011517181.1:p.Pro454Ser
XM_011518880.1:c.1126C>T	XP_011517182.1:p.Pro376Ser
XM_011518881.1:c.715C>T	XP_011517183.1:p.Pro239Ser
XM_011518877.3:c.1360C>T	XP_011517179.1:p.Pro454Ser
XM_011518878.3:c.1369C>T	XP_011517180.1:p.Pro457Ser
XM_011518879.3:c.1360C>T	XP_011517181.1:p.Pro454Ser
XM_011518881.3:c.715C>T	XP_011517183.1:p.Pro239Ser
XM_017014931.1:c.1159C>T	XP_016870420.1:p.Pro387Ser
XM_017014932.1:c.982C>T	XP_016870421.1:p.Pro328Ser
XM_017014933.1:c.715C>T	XP_016870422.1:p.Pro239Ser
XM_024447617.1:c.715C>T	XP_024303385.1:p.Pro239Ser
XM_024447618.1:c.715C>T	XP_024303386.1:p.Pro239Ser
NM_020822.3:c.1225C>T MANE Select	NP_065873.2:p.Pro409Ser
NM_001272003.2:c.1090C>T	NP_001258932.1:p.Pro364Ser